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11/39. Clinical variant of familial amyloid polyneuropathy.

    Hereditary amyloidosis with early and prominent peripheral nerve involvement is often designated familial amyloid polyneuropathy (FAP). The abnormality usually lies in the transthyretin (TTR) gene. We describe a patient with a tyr77 TTR gene mutation who presented with sensorimotor polyneuropathy but no other systemic symptoms of amyloidosis. This is one of a few documented cases of the tyr77 mutation in north america. The clinical and electrophysiologic features of this unusual cause of sensorimotor polyneuropathy are discussed. ( info)

12/39. Choroidal vascular lesions identified by ICG angiography in a case of familial amyloidotic polyneuropathy.

    BACKGROUND: To describe a patient with familial amyloidotic polyneuropathy (FAP) whose choroidal vascular lesions were demonstrated dynamically with the use of indocyanine green (ICG) angiography. CASE: A 59-year-old man complained of blurred vision due to vitreal amyloidosis in both eyes. Fundus examination after pars plana vitrectomy showed multiple retinal hemorrhages. OBSERVATIONS: ICG angiography performed after vitrectomy clearly delineated multiple sites of hyperfluorescence indicating tissue staining alongside the major choroidal veins in the lower fundus of his left eye. ICG hyperfluorescence was more evident in the late angiographic phase. Fundus examination and fluorescein angiography revealed no abnormal findings at the corresponding sites of ICG dye leakage. CONCLUSIONS: Choroidal vascular lesions in eyes with FAP were demonstrated in vivo using ICG angiography for the first time. ICG angiography may be very beneficial to evaluate occult choroidal involvement in patients with FAP. ( info)

13/39. Split liver transplantation for two adult recipients.

    We report a case of split liver transplantation for two adult recipients. The liver graft (1285 g) was split on the backtable into a right lobe graft (900 g, containing the inferior vena cava and middle hepatic vein) and a left lobe graft (385 g). The right lobe graft was implanted into a patient with hepatitis b cirrhosis uneventfully. The left lobe graft was implanted into a patient with familial amyloid polyneuropathy, but was met with massive bleeding from the transection surface and congestion of segment 4. The dusky appearance of segment 4 disappeared after hepatic artery anastomosis, but Doppler ultrasonography showed reverse blood flow in the segment 4 portal vein. Both patients survived the operation. The case illustrated that a left lobe graft without the middle hepatic vein could be problematic. To benefit two adults with chronic liver diseases, a better design of hepatic vein drainage of segment 4 in the left lobe graft and segment 5 and 8 in the right lobe graft is required. ( info)

14/39. Successful treatment of severe orthostatic hypotension with erythropoietin.

    A 71-year-old man, who was diagnosed with familial amyloidosis type I, was admitted for treatment of severe orthostatic hypotension associated with recurrent syncopal attacks. head-up tilt testing demonstrated severe orthostatic hypotension (114/72 mmHg in the supine position and 62/34 mmHg in the upright position) with syncope or presyncope. Oral midodorine and fludrocortisone therapies failed to prevent his symptoms. After administration of subcutaneous erythropoietin, his blood pressure drop in the upright position was decreased and symptoms disappeared unassociated with improvement of anemia. Although previous reports have shown that the mechanism by which erythropoietin improves orthostatic hypotension is related to improvement in anemia, other mechanisms may also play a role. ( info)

15/39. First Spanish family with familial amyloidotic polyneuropathy associated to TTR Thr49Ile mutation.

    We present a Spanish patient with familial amyloidotic polyneuropathy associated with the TTR Thr49Ile mutation previously described in a Japanese patient. This is the first report in a Caucasian patient and the second in the literature. Age of onset at 66 and the clinical picture were similar to the Japanese patient: sensorimotor polyneuropathy, digestive autonomic disturbances, cardiomyopathy and loss of weight. The mutation was diagnosed by dna sequencing and induced mutation restriction analysis. ( info)

16/39. Domino liver transplantation: a practical option in the face of the organ shortage.

    This case study describes a domino liver transplantation in which a patient with familial amyloid polyneuropathy received a cadaveric liver, and the explanted liver was in turn transplanted into a second recipient. Familial amyloid polyneuropathy is an autosomal dominant inherited disease associated with a mutant form of the protein transthyretin. liver transplantation is the only definitive treatment for this disease. Transplantation removes the source of mutant transthyretin, halts the progression of this otherwise fatal disease, and significantly palliates many underlying symptoms. This case study illustrates that domino transplantation is a practical option to provide a liver transplant for a patient with this disease and a second listed patient from a single cadaveric liver organ, thus alleviating the organ donor shortage. Transplantation offers the only cure for the genetic defect that causes familial amyloid polyneuropathy, appears to result in subjective and objective improvement in neurological function, and eliminates the mortality associated with the disease. A signed informed consent was provided for publication of this case study. ( info)

17/39. Combined heart and liver transplantation for familial amyloidotic neuropathy: considerations from the hepatic point of view.

    Few cases of combined heart and liver transplantation (CHLT) for familial amyloidotic polyneuropathy have been reported, and the technique for the operation is far from being consolidated. Three patients with amyloidogenic transthyretin (ATTR)-related (variant Glu89Gln to ATTR Glu89Gln) cardiomyopathy underwent CHLT at our institution. Patient 1 had no serious involvement of other organs, whereas patients 2 and 3 had evident peripheral neuropathy and gastrointestinal motility alterations. Patient 3 also had high-grade orthostatic hypotension. All three patients underwent cardiac and sequential hepatic transplantation using the piggyback technique with organs procured from the same donor. Venovenous bypass (VVB) was used only in patient 1, with an uncomplicated procedure. After CHLT, his cardiac performance remained normal, and no progression of amyloidosis was observed. Patient 2 had no intraoperative complications, but experienced postoperative bleeding, renal failure, sepsis, and heart failure and eventually died of multiorgan failure 2 months after transplantation. In patient 3, right hemicolectomy was required intraoperatively because of intestinal ischemia without significant hemodynamic perturbations, whereas extracardiac symptoms of amyloidosis gradually worsened postoperatively. Two patients (no. 1 and 3) currently are alive after 38 and 18 months, respectively. CHLT for ATTR Glu89Gln can be performed successfully, even in patients with advanced disease. However, the most compromised patients are more exposed to intraoperative risks, postoperative complications, and worsening of extracardiac and extrahepatic symptoms. The need for VVB remains to be evaluated. ( info)

18/39. Atypical familial motor neuropathy in patients with mutant TTR Ile68Leu.

    Two sisters from an Italian family shared progressive motor symptoms, preceding the onset of sensory and autonomic disturbances. The familial occurrence of axonal and slowly progressive polyneuropathy led us to consider these patients as candidates for TTR molecular analysis. We found a missense mutation causing Ile68Leu TTR substitution in both. The aims of this work are to report the possibility of a motor onset of amyloid polyneuropathy and to suggest the search for TTR mutations in familial cases of axonal polyneuropathy. Second, to stress the possible occurrence of amyloid within the spinal canal as the potential pathogenesis and responsible for motor presentation. ( info)

19/39. Late-onset familial amyloid polyneuropathy: an autopsy study of two Japanese brothers.

    We report an autopsy study of late-onset familial amyloid polyneuropathy with a variant transthyretin Val30Met in 2 brothers living in Kyoto, japan. The disease onsets were at 64 and 59 years, and they died at 71 and 74 years old, respectively. They exhibited almost the same postmortem findings. Amyloid deposition was remarkable in the hearts, but was not seen in the renal glomeruli. In the peripheral nervous system, amyloid deposition was most prominent in the nerves immediately caudal to ganglia, moderate in the dorsal and sympathetic ganglia, and mild in the spinal roots, sciatic nerves, and distal nerves. The difference between the amyloid deposition in the proximal portion and distal portion of the extremity nerves appeared to be greater in the late-onset type than in the ordinary type, and this proximal deposition of amyloid may have induced severe distal nerve fiber degeneration. ( info)

20/39. Familial amyloidotic polyneuropathy with severe renal involvement in association with transthyretin Gly47Glu in Dutch, British and American-Finnish families.

    Familial amyloidotic polyneuropathy (FAP) is an autosomal dominant disorder associated with more than 80 different transthyretin (TTR) mutations. The clinical features of FAP are broad and variable, but knowledge of the pattern and natural history of disease associated with particular mutations nevertheless offers the best guidance for management of individual patients, including the role and timming of treatment by orthotopic liver transplantation. FAP in association with TTR Gly47Glu has been described previously in an Italian kindred, and we report here its phenotype in 7 additional patients from Dutch, British, and American (Finnish) families. Characteristic clinical features included amyloid cardiomyopathy and autonomic failure but, unusually, moderate to severe renal failure was present in more than half of the cases. Only four patients were deemed to be sufficiently fit to undergo orthotopic liver transplantation, and clinical deterioration was generally rapid. These observations support early intervention with orthotopic liver transplantation in patients with FAP associated with TTR Gly47Glu. ( info)
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